rs72554626
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (T;T) | 0 | common in complete genomics |
| Make rs72554626(A;G) |
| Make rs72554626(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 142912000 |
| Gene | CYP11B2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72554626 |
| dbSNP (classic) | rs72554626 |
| ClinGen | rs72554626 |
| ebi | rs72554626 |
| HLI | rs72554626 |
| Exac | rs72554626 |
| Gnomad | rs72554626 |
| Varsome | rs72554626 |
| LitVar | rs72554626 |
| Map | rs72554626 |
| PheGenI | rs72554626 |
| Biobank | rs72554626 |
| 1000 genomes | rs72554626 |
| hgdp | rs72554626 |
| ensembl | rs72554626 |
| geneview | rs72554626 |
| scholar | rs72554626 |
| rs72554626 | |
| pharmgkb | rs72554626 |
| gwascentral | rs72554626 |
| openSNP | rs72554626 |
| 23andMe | rs72554626 |
| SNPshot | rs72554626 |
| SNPdbe | rs72554626 |
| MSV3d | rs72554626 |
| GWAS Ctlg | rs72554626 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72554626(G;G) |
| Alt | rs72554626(G;G) |
| Reference | Rs72554626(A;A) |
| Significance | Pathogenic |
| Disease | Corticosterone methyloxidase type 2 deficiency |
| Variation | info |
| Gene | CYP11B2 |
| CLNDBN | Corticosterone methyloxidase type 2 deficiency |
| Reversed | 1 |
| HGVS | NC_000008.10:g.143993416T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018381.27, |
